Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.R2347H
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NOTCH2

NM_024408.4:p.R2347H

Associated Papers

Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.

Li ZD et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2022

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.

Omura T et al.

Cancers, 2022

35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › VUS

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Zhang J et al.

Frontiers in Oncology, 2021

35087742 (PubMed )
Supplement: Table_1.xlsx › Table3_mut_frequency_v3
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